The Cohen syndrome: Does mottled retina separate a finnish and a jewish type?
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference23 articles.
1. The Cohen syndrome: clinical and endocrinological studies of two new cases.
2. Confirmation of the Cohen syndrome
3. A new syndrome with hypotonia, obesity, mental deficiency, and facial, oral, ocular, and limb anomalies
Cited by 48 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Discerning clinicopathological features of congenital neutropenia syndromes: an approach to diagnostically challenging differential diagnoses;Journal of Clinical Pathology;2024-04-08
2. Cohen syndrome due to a novel stop-gain mutation in VPS13B gene: A case report and comparative study in affected siblings worldwide;2024-02-21
3. Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis‐plus syndrome in two siblings;Clinical Genetics;2021-06-04
4. Cohen Syndrome;Encyclopedia of Autism Spectrum Disorders;2021
5. Homozygosity mapping and whole exome sequencing provide exact diagnosis of Cohen syndrome in a Saudi family;Brain and Development;2020-09
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